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GANAB-related Polycystic Kidney Disease Mimicking the Cutaneous Findings of Neurofibromatosis Type 1

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Pathogenic GANAB gene variants are a rare cause of autosomal dominant polycystic kidney disease (ADPKD). With only few reported cases, the phenotypic spectrum of GANAB-related disorders is still emerging. Although kidney and hepatic cysts are well-documented, ... ...